About Osteogenesis Imperfecta
Osteogenesis imperfecta is a heritable connective tissue disorder caused by defects in type I collagen synthesis, leading to abnormally fragile bones that fracture with minimal or no trauma. Clinical severity ranges from mild forms with relatively few fractures to lethal perinatal forms with extreme skeletal fragility and pulmonary insufficiency. All types share deficient or structurally abnormal collagen as the underlying molecular defect.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Osteogenesis Imperfecta trials.
Document fracture history and DEXA bone mineral density results before enrolling — most trials require baseline densitometry and a minimum fracture count in the prior 12 months.
Bisphosphonate use is a common exclusion criterion; confirm washout periods and current medication regimen with the trial coordinator.
Type classification (I–V or molecular subtype) is often required; ensure genetic confirmation of COL1A1/COL1A2 pathogenic variant is on file.
Patient Resources
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